Microcephaly

Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation

Genetics / Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool

Radiological features in Brachmann-de Lange syndrome

Genetics / Humans / Child / Microcephaly / Female / Male / American / Phenotype / Clinical Sciences / Ribs / Extremities / Male / American / Phenotype / Clinical Sciences / Ribs / Extremities

Trisomy 16p: A longitudinal profile and photo essay

Genetics / Adolescent / Humans / Child / Microcephaly / Male / Infant / Developmental disabilities / Follow-up studies / Karyotyping / Clinical Sciences / Newborn Infant / Trisomy 21 / Adult / Male / Infant / Developmental disabilities / Follow-up studies / Karyotyping / Clinical Sciences / Newborn Infant / Trisomy 21 / Adult

Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency

Mitochondria / Medicine / Mitochondrial DNA / Humans / Mutation / Microcephaly / Female / Male / Infant / Newborn Infant / Mitochondrial Diseases / New England / Guanosine Triphosphate / Oxidative phosphorylation / Deficiency / Liver Failure / Deficit / New England Journalof Medicine / Protein Biosynthesis / Mitochondrial Proteins / Microcephaly / Female / Male / Infant / Newborn Infant / Mitochondrial Diseases / New England / Guanosine Triphosphate / Oxidative phosphorylation / Deficiency / Liver Failure / Deficit / New England Journalof Medicine / Protein Biosynthesis / Mitochondrial Proteins

Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: A unique expression of polytopic field defect involving possible ?paradominant? inheritance?

Genetics / Humans / Child / Microcephaly / Developmental disabilities / Clinical Sciences / Part / A / Syndrome / Ectodermal Dysplasia / Scalp / Medical / Clinical Sciences / Part / A / Syndrome / Ectodermal Dysplasia / Scalp / Medical

Microcephaly, Lymphedema, Chorioretinal Dysplasia (MLCRD) Syndrome

Nursing / Humans / Microcephaly / Male / Infant / Pediatric Health Care / Lymphedema / Syndrome / Pediatric Health Care / Lymphedema / Syndrome

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